Mutagenetix > Incidental Mutation

Incidental Mutation 'R6998:Adcy1'

544354

Institutional Source

Beutler Lab

Gene Symbol

Adcy1

Ensembl Gene

ENSMUSG00000020431

Gene Name

adenylate cyclase 1

Synonyms

I-AC, D11Bwg1392e, AC1

MMRRC Submission

045010-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7063489-7178506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 7079026 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 259 (N259H)

Ref Sequence

ENSEMBL: ENSMUSP00000020706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020706]

AlphaFold

O88444

Predicted Effect

probably damaging
Transcript: ENSMUST00000020706
AA Change: N259H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: N259H

Domain	Start	End	E-Value	Type
low complexity region	2	36	N/A	INTRINSIC
low complexity region	58	90	N/A	INTRINSIC
low complexity region	112	135	N/A	INTRINSIC
CYCc	257	455	2.05e-80	SMART
transmembrane domain	608	630	N/A	INTRINSIC
transmembrane domain	634	656	N/A	INTRINSIC
transmembrane domain	676	698	N/A	INTRINSIC
CYCc	827	1038	1.71e-50	SMART
low complexity region	1090	1104	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for an insertional or null mutation fail to develop normal patterned distribution of neurons in the brain and display behavioral and learning abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,162,710 (GRCm38)	R620G	probably benign	Het
Ahctf1	G	A	1: 179,770,915 (GRCm38)	R2*	probably null	Het
Akr1c21	A	G	13: 4,583,851 (GRCm38)	I306M	probably benign	Het
Alg9	T	A	9: 50,789,621 (GRCm38)	S230R	possibly damaging	Het
Armt1	T	A	10: 4,453,937 (GRCm38)	C341S	probably benign	Het
Aspg	T	A	12: 112,112,194 (GRCm38)	L29M	probably damaging	Het
Aspm	C	T	1: 139,469,472 (GRCm38)	T934I	probably damaging	Het
C1rl	T	C	6: 124,508,902 (GRCm38)	S411P	probably damaging	Het
Card14	A	G	11: 119,322,899 (GRCm38)	E224G	probably damaging	Het
Ccdc88c	T	C	12: 100,916,852 (GRCm38)	H1587R	probably damaging	Het
Ccp110	A	G	7: 118,732,897 (GRCm38)	T963A	possibly damaging	Het
Cdk11b	G	A	4: 155,648,343 (GRCm38)	W546*	probably null	Het
Cyp8b1	T	C	9: 121,915,993 (GRCm38)	N91S	probably benign	Het
Dab2	G	T	15: 6,424,649 (GRCm38)	M213I	possibly damaging	Het
Decr1	A	G	4: 15,930,960 (GRCm38)	V124A	probably damaging	Het
Fbxl13	T	A	5: 21,543,689 (GRCm38)	I411F	probably damaging	Het
Fbxl13	T	C	5: 21,620,613 (GRCm38)	I164V	probably null	Het
Fndc7	G	A	3: 108,876,648 (GRCm38)	A215V	probably benign	Het
Garem2	T	C	5: 30,114,170 (GRCm38)	M210T	possibly damaging	Het
Gpatch2l	G	A	12: 86,244,184 (GRCm38)	R47H	probably damaging	Het
Ighv1-52	C	A	12: 115,145,492 (GRCm38)	A115S	probably benign	Het
Igkv6-13	A	G	6: 70,457,589 (GRCm38)	S91P	probably damaging	Het
Ints8	T	A	4: 11,204,537 (GRCm38)	E973V	possibly damaging	Het
Itga3	T	C	11: 95,051,462 (GRCm38)	K972R	probably benign	Het
Klhl33	A	T	14: 50,893,021 (GRCm38)	F339I	probably benign	Het
Krt79	T	C	15: 101,937,872 (GRCm38)	M214V	probably benign	Het
Lgsn	A	T	1: 31,204,193 (GRCm38)	H452L	probably benign	Het
Limd2	C	T	11: 106,158,690 (GRCm38)	G124D	probably benign	Het
Luzp1	T	C	4: 136,543,444 (GRCm38)	S993P	probably damaging	Het
Maml2	C	T	9: 13,621,185 (GRCm38)		probably benign	Het
Mbtd1	A	T	11: 93,924,612 (GRCm38)	H342L	probably damaging	Het
Mfhas1	C	A	8: 35,591,356 (GRCm38)	P995Q	probably damaging	Het
Muc5ac	T	C	7: 141,818,714 (GRCm38)	F3399S	possibly damaging	Het
Napb	T	C	2: 148,700,425 (GRCm38)	Y205C	probably damaging	Het
Odf2	G	T	2: 29,912,617 (GRCm38)	A298S	probably benign	Het
Olfr1082	A	T	2: 86,594,144 (GRCm38)	M228K	probably damaging	Het
Olfr1193	A	T	2: 88,678,508 (GRCm38)	I218F	probably benign	Het
Olfr740	A	T	14: 50,453,433 (GRCm38)	Y127F	probably benign	Het
Pcsk5	T	C	19: 17,473,112 (GRCm38)	D1124G	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm38)		probably benign	Het
Pik3c2b	T	G	1: 133,102,372 (GRCm38)	I1457S	probably benign	Het
Pole2	T	C	12: 69,213,906 (GRCm38)	T167A	possibly damaging	Het
Rfx7	T	A	9: 72,618,505 (GRCm38)	S992R	probably damaging	Het
Ryr2	G	T	13: 11,712,166 (GRCm38)	S2436R	probably damaging	Het
Sgo2a	A	G	1: 58,016,640 (GRCm38)	D661G	probably damaging	Het
Sh3glb2	T	A	2: 30,355,321 (GRCm38)	T49S	probably damaging	Het
Slc16a10	T	C	10: 40,056,503 (GRCm38)	K354R	possibly damaging	Het
Slc6a6	C	A	6: 91,752,438 (GRCm38)	T568K	probably benign	Het
Sptbn1	T	C	11: 30,100,633 (GRCm38)	T2319A	probably damaging	Het
Tbl1xr1	T	A	3: 22,179,290 (GRCm38)	Y15N	probably damaging	Het
Thyn1	T	C	9: 27,006,442 (GRCm38)	S160P	probably damaging	Het
Tshz1	A	T	18: 84,015,841 (GRCm38)	D147E	probably benign	Het
Vmn2r50	T	G	7: 10,037,757 (GRCm38)	R672S	probably benign	Het
Zfp663	A	T	2: 165,354,002 (GRCm38)	I99N	possibly damaging	Het

Other mutations in Adcy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Adcy1	APN	11	7,137,385 (GRCm38)	missense	probably damaging	0.99
IGL01325:Adcy1	APN	11	7,064,102 (GRCm38)	missense	possibly damaging	0.58
IGL01531:Adcy1	APN	11	7,169,414 (GRCm38)	missense	possibly damaging	0.95
IGL01585:Adcy1	APN	11	7,167,143 (GRCm38)	missense	probably damaging	1.00
IGL01932:Adcy1	APN	11	7,100,565 (GRCm38)	splice site	probably benign
IGL01945:Adcy1	APN	11	7,161,891 (GRCm38)	missense	probably damaging	1.00
IGL02532:Adcy1	APN	11	7,144,737 (GRCm38)	missense	probably benign	0.26
IGL02649:Adcy1	APN	11	7,167,156 (GRCm38)	missense	probably damaging	1.00
IGL02658:Adcy1	APN	11	7,138,279 (GRCm38)	splice site	probably benign
IGL02813:Adcy1	APN	11	7,146,591 (GRCm38)	missense	possibly damaging	0.83
IGL02931:Adcy1	APN	11	7,079,012 (GRCm38)	missense	probably benign	0.19
IGL03116:Adcy1	APN	11	7,150,071 (GRCm38)	missense	probably benign
IGL03119:Adcy1	APN	11	7,109,051 (GRCm38)	missense	probably damaging	1.00
IGL03214:Adcy1	APN	11	7,167,054 (GRCm38)	splice site	probably benign
PIT4431001:Adcy1	UTSW	11	7,064,089 (GRCm38)	missense	possibly damaging	0.93
PIT4520001:Adcy1	UTSW	11	7,167,133 (GRCm38)	missense	probably damaging	1.00
R0032:Adcy1	UTSW	11	7,144,729 (GRCm38)	missense	possibly damaging	0.93
R0032:Adcy1	UTSW	11	7,144,729 (GRCm38)	missense	possibly damaging	0.93
R0080:Adcy1	UTSW	11	7,149,497 (GRCm38)	splice site	probably benign
R0082:Adcy1	UTSW	11	7,149,497 (GRCm38)	splice site	probably benign
R0238:Adcy1	UTSW	11	7,139,162 (GRCm38)	missense	possibly damaging	0.80
R0238:Adcy1	UTSW	11	7,139,162 (GRCm38)	missense	possibly damaging	0.80
R0312:Adcy1	UTSW	11	7,149,538 (GRCm38)	missense	probably benign	0.08
R0569:Adcy1	UTSW	11	7,146,514 (GRCm38)	missense	probably benign	0.34
R1055:Adcy1	UTSW	11	7,109,075 (GRCm38)	missense	probably damaging	1.00
R1144:Adcy1	UTSW	11	7,137,400 (GRCm38)	missense	probably damaging	1.00
R1179:Adcy1	UTSW	11	7,167,054 (GRCm38)	splice site	probably null
R1245:Adcy1	UTSW	11	7,169,410 (GRCm38)	splice site	probably benign
R1467:Adcy1	UTSW	11	7,138,396 (GRCm38)	missense	probably damaging	0.97
R1467:Adcy1	UTSW	11	7,138,396 (GRCm38)	missense	probably damaging	0.97
R1823:Adcy1	UTSW	11	7,161,312 (GRCm38)	missense	probably benign	0.23
R1953:Adcy1	UTSW	11	7,078,991 (GRCm38)	missense	probably benign	0.01
R1957:Adcy1	UTSW	11	7,161,945 (GRCm38)	missense	probably benign	0.00
R2029:Adcy1	UTSW	11	7,139,142 (GRCm38)	missense	probably benign	0.10
R2051:Adcy1	UTSW	11	7,161,885 (GRCm38)	nonsense	probably null
R2483:Adcy1	UTSW	11	7,130,348 (GRCm38)	missense	probably benign	0.01
R3108:Adcy1	UTSW	11	7,169,453 (GRCm38)	missense	probably damaging	1.00
R3623:Adcy1	UTSW	11	7,130,348 (GRCm38)	missense	probably benign	0.01
R3624:Adcy1	UTSW	11	7,130,348 (GRCm38)	missense	probably benign	0.01
R4082:Adcy1	UTSW	11	7,064,117 (GRCm38)	missense	probably damaging	1.00
R4159:Adcy1	UTSW	11	7,063,889 (GRCm38)	missense	probably damaging	1.00
R4470:Adcy1	UTSW	11	7,144,804 (GRCm38)	missense	probably benign	0.17
R4472:Adcy1	UTSW	11	7,130,369 (GRCm38)	missense	probably damaging	1.00
R4951:Adcy1	UTSW	11	7,138,336 (GRCm38)	missense	possibly damaging	0.83
R4997:Adcy1	UTSW	11	7,161,298 (GRCm38)	missense	probably benign	0.25
R5237:Adcy1	UTSW	11	7,149,553 (GRCm38)	missense	probably benign	0.00
R5288:Adcy1	UTSW	11	7,161,351 (GRCm38)	missense	probably benign	0.01
R5304:Adcy1	UTSW	11	7,064,198 (GRCm38)	missense	probably benign	0.00
R5341:Adcy1	UTSW	11	7,130,375 (GRCm38)	missense	probably damaging	0.99
R5379:Adcy1	UTSW	11	7,146,532 (GRCm38)	missense	probably damaging	1.00
R5592:Adcy1	UTSW	11	7,139,088 (GRCm38)	nonsense	probably null
R5677:Adcy1	UTSW	11	7,161,914 (GRCm38)	missense	probably damaging	1.00
R5680:Adcy1	UTSW	11	7,109,020 (GRCm38)	missense	probably damaging	1.00
R5753:Adcy1	UTSW	11	7,130,300 (GRCm38)	missense	probably damaging	1.00
R5888:Adcy1	UTSW	11	7,139,095 (GRCm38)	missense	possibly damaging	0.66
R5943:Adcy1	UTSW	11	7,161,337 (GRCm38)	missense	probably damaging	1.00
R6435:Adcy1	UTSW	11	7,161,367 (GRCm38)	missense	possibly damaging	0.60
R6931:Adcy1	UTSW	11	7,150,884 (GRCm38)	missense	possibly damaging	0.81
R7368:Adcy1	UTSW	11	7,144,765 (GRCm38)	missense	probably damaging	1.00
R7378:Adcy1	UTSW	11	7,169,543 (GRCm38)	missense	possibly damaging	0.56
R7393:Adcy1	UTSW	11	7,137,381 (GRCm38)	missense	probably damaging	1.00
R7500:Adcy1	UTSW	11	7,144,762 (GRCm38)	missense	probably damaging	1.00
R7529:Adcy1	UTSW	11	7,139,157 (GRCm38)	missense	probably damaging	0.98
R8681:Adcy1	UTSW	11	7,161,328 (GRCm38)	missense	probably damaging	1.00
R8682:Adcy1	UTSW	11	7,161,328 (GRCm38)	missense	probably damaging	1.00
R8683:Adcy1	UTSW	11	7,161,328 (GRCm38)	missense	probably damaging	1.00
R8831:Adcy1	UTSW	11	7,161,362 (GRCm38)	missense	probably benign	0.02
R8859:Adcy1	UTSW	11	7,161,877 (GRCm38)	missense	probably benign	0.06
R8894:Adcy1	UTSW	11	7,137,375 (GRCm38)	missense	probably damaging	0.97
R8904:Adcy1	UTSW	11	7,109,075 (GRCm38)	missense	probably damaging	1.00
R8970:Adcy1	UTSW	11	7,149,983 (GRCm38)	missense	probably benign	0.00
R9037:Adcy1	UTSW	11	7,137,325 (GRCm38)	missense	possibly damaging	0.78
R9172:Adcy1	UTSW	11	7,160,317 (GRCm38)	missense	probably damaging	0.97
R9303:Adcy1	UTSW	11	7,144,766 (GRCm38)	missense	probably damaging	1.00
R9448:Adcy1	UTSW	11	7,149,575 (GRCm38)	missense	possibly damaging	0.94
R9694:Adcy1	UTSW	11	7,144,774 (GRCm38)	missense	probably damaging	1.00
R9763:Adcy1	UTSW	11	7,064,126 (GRCm38)	missense	probably damaging	1.00
X0027:Adcy1	UTSW	11	7,161,930 (GRCm38)	missense	possibly damaging	0.47
Z1088:Adcy1	UTSW	11	7,150,019 (GRCm38)	missense	probably benign	0.19
Z1176:Adcy1	UTSW	11	7,150,857 (GRCm38)	missense	probably damaging	0.96
Z1176:Adcy1	UTSW	11	7,149,536 (GRCm38)	missense	probably damaging	0.99
Z1176:Adcy1	UTSW	11	7,109,098 (GRCm38)	missense	probably damaging	1.00
Z1176:Adcy1	UTSW	11	7,150,858 (GRCm38)	missense	possibly damaging	0.62
Z1177:Adcy1	UTSW	11	7,144,802 (GRCm38)	missense	probably damaging	1.00
Z1177:Adcy1	UTSW	11	7,100,642 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAGCCTGGACAGACCCTACATC -3'
(R):5'- AAGCAGCTCAGCTCCTTCAG -3'

Sequencing Primer
(F):5'- AGACCCTACATCTACACCTGTTC -3'
(R):5'- GGTCCTACCACGAATCAGTGAG -3'

Posted On

2019-05-13